A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5615328



Internal ID21563633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240618187..240618187hg38UCSC Ensembl
chr1:240781487..240781487hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17063631
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5615328
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer